Pulmonary artery dissection complicating aortic dissection in a patient with bicuspid aortic valve and aortic coarctation.
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ABSTRACT:
SUBMITTER: Khaja MS
PROVIDER: S-EPMC5552015 | biostudies-other | 2017 Sep
REPOSITORIES: biostudies-other
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Project description:ObjectivesThis study aimed to explore aortic morphology and the associations between morphological features and cardiovascular function in a population of patients with bicuspid aortic valve, while further assessing differences between patients with repaired coarctation, patients with unrepaired coarctation and patients without coarctation.MethodsThis is a single-centre retrospective study that included patients with available cardiovascular magnetic resonance imaging data and native bicuspid aortic valve diagnosis (n = 525). A statistical shape analysis was performed on patients with a 3-dimensional magnetic imaging resonance (MRI) dataset (n = 108), deriving 3-dimensional aortic reconstructions and computing a mean aortic shape (template) for the whole population as well as for the 3 subgroups of interest (no coarctation, repaired coarctation and unrepaired coarctation). Shape deformations (modes) were computed and correlated with demographic variables, 2-dimensional MRI measurements and volumetric and functional data.ResultsOverall, the results showed that patients with coarctation tended towards a more Gothic arch architecture, with decreased ascending and increased descending aorta diameters, with the unrepaired-aortic coarctation subgroup exhibiting more ascending aorta dilation. Careful assessment of patients with repaired coarctation only revealed that a more Gothic arch, increased descending aorta dimensions and ascending aorta dilation were associated with reduced ejection fraction (P ≤ 0.04), increased end-diastolic volume (P ≤ 0.04) and increased ventricular mass (P ≤ 0.02), with arch morphology distinguishing patients with and without recoarctation (P = 0.05).ConclusionsA statistical shape modelling framework was applied to a bicuspid aortic valve population revealing nuanced differences in arch morphology and demonstrating that morphological features, not immediately described by conventional measurements, can indicate those shape phenotypes associated with compromised function and thus possibly warranting closer follow-up.
| S-EPMC6459283 | biostudies-literature
Project description:A 37-year-old male presented to the Emergency Department with acute worsening of back pain and new onset dyspnea. Transthoracic echocardiography revealed moderate left ventricular dysfunction and a bicuspid aortic valve (BAV). In addition, he was noted to have a dilated thoracic aorta concerning for a dissection, severe aortic insufficiency (AI), and both a pericardial and pleural effusion. Magnetic resonance imaging revealed a Type A ascending aortic dissection. He was taken emergently to the operating room for repair. An intraoperative transesophageal echocardiography examination was performed which revealed a normal trileaflet AV with a Type A aortic dissection flap masquerading as a BAV. The dissection flap interfered with both the valve's function, causing severe AI, as well as the valve's appearance, causing it to look bicuspid on echocardiography.
| S-EPMC5791272 | biostudies-literature
Project description:Coarctation of the aorta is a form of left ventricular outflow tract obstruction in paediatric patients that can be presented with either bicuspid (BAV) or normal tricuspid (TAV) aortic valve. The congenital BAV is associated with hemodynamic changes and can therefore trigger different molecular remodelling in the coarctation area. This study investigated the proteomic and phosphoproteomic changes associated with BAV for the first time in neonatal coarctation patients. Aortic tissue was collected just proximal to the coarctation site from 23 neonates (BAV; n = 10, TAV; n = 13) that were matched for age (age range 4-22 days). Tissue from half of the patients was frozen and used for proteomic and phosphoproteomic analysis whilst the remaining tissue was formalin fixed and used for analysis of elastin content using Elastic Van-Gieson (EVG) staining. A total of 1796 protein and 75 phosphoprotein accession numbers were detected, of which 34 proteins and one phosphoprotein (SSH3) were differentially expressed in BAV patients compared to TAV patients. Ingenuity Pathway Analysis identified the formation of elastin fibres as a significantly enriched function (p = 1.12 × 10-4) due to the upregulation of EMILIN-1 and the downregulation of TNXB. Analysis of paraffin sections stained with EVG demonstrated increased elastin content in BAV patients. The proteomic/phosphoproteomic analysis also suggested changes in inositol signalling pathways and reduced expression of the antioxidant SOD3. This work demonstrates for the first time that coarcted aortic tissue in neonatal BAV patients has an altered proteome/phosphoproteome consistent with observed structural vascular changes when compared to TAV patients.
| S-EPMC6518196 | biostudies-literature
Project description:Data regarding the risk of aortic dissection in patients with bicuspid aortic valve and large ascending aortic diameter are limited, and appropriate timing of prophylactic ascending aortic replacement lacks consensus. Thus our objectives were to determine the risk of aortic dissection based on initial cross-sectional imaging data and clinical variables and to isolate predictors of aortic intervention in those initially prescribed serial surveillance imaging.From January 1995 to January 2014, 1,181 patients with bicuspid aortic valve underwent cross-sectional computed tomography (CT) or magnetic resonance imaging (MRI) to ascertain sinus or tubular ascending aortic diameter greater than or equal to 4.7 cm. Random Forest classification was used to identify risk factors for aortic dissection, and among patients undergoing surveillance, time-related analysis was used to identify risk factors for aortic intervention.Prevalence of type A dissection that was detected by imaging or was found at operation or on follow-up was 5.3% (n = 63). Probability of type A dissection increased gradually at a sinus diameter of 5.0 cm--from 4.1% to 13% at 7.2 cm--and then increased steeply at an ascending aortic diameter of 5.3 cm--from 3.8% to 35% at 8.4 cm--corresponding to a cross-sectional area to height ratio of 10 cm(2)/m for sinuses of Valsalva and 13 cm(2)/m for the tubular ascending aorta. Cross-sectional area to height ratio was the best predictor of type A dissection (area under the curve [AUC] = 0.73).Early prophylactic ascending aortic replacement in patients with bicuspid aortic valve should be considered at high-volume aortic centers to reduce the high risk of preventable type A dissection in those with aortas larger than approximately 5.0 cm or with a cross-sectional area to height ratio greater than approximately 10 cm(2)/m.
| S-EPMC5166604 | biostudies-literature
Project description:Bicuspid pulmonary valves and pulmonary artery aneurysms are two rare entities, reported in association, and usually attributed to hemodynamic alterations caused by the bicuspid pulmonary valve. We present magnetic resonance images of a patient with a bicuspid pulmonary valve and pulmonary artery aneurysm, and propose an alternative mechanism for this association, based on recent embryologic studies that link anomalies of the semilunar valves and great vessels with derangement of the cardiac neural crest cell development.
| S-EPMC4505617 | biostudies-literature
Project description:Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for which gene identification has been difficult. We describe a 46,XY,t(1;5)(p36.11;q31.2)dn translocation carrier with pervasive developmental delay who also exhibited LVOT defects, including bicuspid aortic valve (BAV), coarctation of the aorta (CoA) and patent ductus arteriosus (PDA). The 1p breakpoint disrupts the 5' UTR of AHDC1, which encodes AT-hook DNA-binding motif containing-1 protein, and AHDC1-truncating mutations have recently been described in a syndrome that includes developmental delay, but not congenital heart disease [Xia, F., Bainbridge, M.N., Tan, T.Y., Wangler, M.F., Scheuerle, A.E., Zackai, E.H., Harr, M.H., Sutton, V.R., Nalam, R.L., Zhu, W. et al. (2014) De Novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am. J. Hum. Genet., 94, 784-789]. On the other hand, the 5q translocation breakpoint disrupts the 3' UTR of MATR3, which encodes the nuclear matrix protein Matrin 3, and mouse Matr3 is strongly expressed in neural crest, developing heart and great vessels, whereas Ahdc1 is not. To further establish MATR3 3' UTR disruption as the cause of the proband's LVOT defects, we prepared a mouse Matr3(Gt-ex13) gene trap allele that disrupted the 3' portion of the gene. Matr3(Gt-ex13) homozygotes are early embryo lethal, but Matr3(Gt-ex13) heterozygotes exhibit incompletely penetrant BAV, CoA and PDA phenotypes similar to those in the human proband, as well as ventricular septal defect (VSD) and double-outlet right ventricle (DORV). Both the human MATR3 translocation breakpoint and the mouse Matr3(Gt-ex13) gene trap insertion disturb the polyadenylation of MATR3 transcripts and alter Matrin 3 protein expression, quantitatively or qualitatively. Thus, subtle perturbations in Matrin 3 expression appear to cause similar LVOT defects in human and mouse.
| S-EPMC4380077 | biostudies-literature
Project description:Genome wide DNA methylation profiling of ascending aorta tissue samples from normal, aortic dissection and bicuspid aortic valve patients with aortic dilation. The Illumina Infinium 450k Human DNA methylation Beadchip was used to obtain DNA methylation profiles across more than 450,000 CpGs in ascending aorta samples. Samples included 6 normal donors, 12 patients with aortic dissection and 6 patients with bicuspid aortic valve and dilated aorta.
2019-07-11 | GSE84274 | GEO
Project description:BackgroundNon-calcified aortic stenosis (AS) is rare and is associated with a high risk of transcatheter valve embolization and migration (TVEM) because aortic valve complex calcification is important for stable anchoring of the prosthesis. Therefore, transcatheter aortic valve implantation (TAVI) for non-calcified AS is not preferred. However, a universally accepted strategy for TAVI in such patients is not yet established.Case summaryA 69-year-old woman with symptomatic severe AS and a high surgical risk was admitted to our institution for TAVI. Pre-procedural computed tomography (CT) revealed a non-calcified bicuspid aortic valve. Implantation of a 23 mm self-expandable valve (SEV) was planned according to the manufacturer's recommended optimal size based on CT measurements. Intraoperatively, the 23 mm SEV did not snugly fit at the aortic apparatus level. Thus, we deployed a 26 mm SEV with stable anchoring because of the stronger radial force. She was discharged without any complication. Echocardiography at 3 months follow-up showed a well-functioning transcatheter heart valve (THV) without migration or paravalvular leakage.DiscussionIn our patient with non-calcified bicuspid AS, an SEV that was one size larger than the optimal as measured on CT was successfully implanted without THV embolization. An upsized SEV may be considered when performing TAVI in patients with severe non-calcified AS.
| S-EPMC9933938 | biostudies-literature
Project description:BackgroundCongenital heart disease (CHD) is a cardinal feature of X chromosome monosomy, or Turner syndrome (TS). Haploinsufficiency for gene(s) located on Xp have been implicated in the short stature characteristic of the syndrome, but the chromosomal region related to the CHD phenotype has not been established.DesignWe used cardiac MRI to diagnose cardiovascular abnormalities in four non-mosaic karyotype groups based on 50-metaphase analyses: 45,X (n=152); 46,X,del(Xp) (n=15); 46,X,del(Xq) (n=4); and 46,X,i(Xq) (n=14) from peripheral blood cells.ResultsBicuspid aortic valves (BAV) were found in 52/152 (34%) 45,X study subjects and aortic coarctation (COA) in 19/152 (12.5%). Isolated anomalous pulmonary veins (APV) were detected in 15/152 (10%) for the 45,X study group, and this defect was not correlated with the presence of BAV or COA. BAVs were present in 28.6% of subjects with Xp deletions and COA in 6.7%. APV were not found in subjects with Xp deletions. The most distal break associated with the BAV/COA trait was at cytologic band Xp11.4 and ChrX:41,500 000. One of 14 subjects (7%) with the 46,X,i(Xq) karyotype had a BAV and no cases of COA or APV were found in this group. No cardiovascular defects were found among four patients with Xq deletions.ConclusionsThe high prevalence of BAV and COA in subjects missing only the X chromosome short arm indicates that haploinsufficiency for Xp genes contributes to abnormal aortic valve and aortic arch development in TS.
| S-EPMC3786649 | biostudies-literature
Project description:Graphical abstract Highlights • Congenital Gerbode defect remains a rare phenomenon.• CoA can worsen shunting due to left ventricular obstruction.• Assess for coexisting congenital defects that may alter management.
| S-EPMC10307586 | biostudies-literature